ClinVar Miner

Variants in gene AP3B1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924 0.00669
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.2470+10G>C rs556568288 0.00001
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527

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